|
1
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
|
2
|
(HPO:0000505)
|
Visual impairment |
|
|
|
|
297 / 7739
|
|
3
|
(HPO:0000545)
|
Myopia |
|
|
|
|
286 / 7739
|
|
4
|
(HPO:0000573)
|
Retinal hemorrhage |
|
|
|
|
13 / 7739
|
|
5
|
(HPO:0000592)
|
Blue sclerae |
|
|
|
|
85 / 7739
|
|
6
|
(HPO:0000608)
|
Macular degeneration |
|
|
|
|
36 / 7739
|
|
7
|
(HPO:0000766)
|
Abnormality of the sternum |
|
|
|
|
31 / 7739
|
|
8
|
(HPO:0001102)
|
Angioid streaks of the retina |
|
|
|
|
11 / 7739
|
|
9
|
(HPO:0001342)
|
Cerebral hemorrhage |
|
|
|
|
24 / 7739
|
|
10
|
(HPO:0001634)
|
Mitral valve prolapse |
|
|
|
|
69 / 7739
|
|
11
|
(HPO:0001681)
|
Angina pectoris |
|
|
|
|
22 / 7739
|
|
12
|
(HPO:0002239)
|
Gastrointestinal hemorrhage |
|
|
|
|
97 / 7739
|
|
13
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
14
|
(HPO:0002808)
|
Kyphosis |
|
|
|
|
289 / 7739
|
|
15
|
(HPO:0005297)
|
Premature occlusive vascular disease |
|
|
|
|
2 / 7739
|
|
16
|
(HPO:0005462)
|
Calcification of falx cerebri |
|
|
|
|
6 / 7739
|
|
17
|
(OMIM)
|
Peau d'orange retinal changes |
|
|
|
|
3 / 7739
|
|
18
|
(OMIM)
|
Salmon spots |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Yellowish lip mucosal nodules |
|
|
|
|
1 / 7739
|
|
20
|
(HPO:0004417)
|
Intermittent claudication |
|
|
|
|
10 / 7739
|
|
21
|
(HPO:0002634)
|
Arteriosclerosis |
|
|
|
|
3 / 7739
|
|
22
|
(OMIM)
|
Medial calcification of medium-sized and major arteries |
|
|
|
|
1 / 7739
|
|
23
|
(OMIM)
|
Diminished or absent peripheral pulses |
|
|
|
|
1 / 7739
|
|
24
|
(OMIM)
|
Small, yellow papules (mouth, neck, axilla, elbows, groin, periumbilical region) |
|
|
|
|
1 / 7739
|
|
25
|
(MedDRA:10049752)
|
Peau d'orange |
|
|
|
|
1 / 7739
|
|
26
|
(OMIM)
|
Elastosis perforans serpiginosa |
|
|
|
|
1 / 7739
|